21. ACP-ASIM Online - Medicine In Quotations Online Subject Abetalipoproteinemia (bassenkornzweig syndrome). Contributor Huth,Edward J. Subject Abetalipoproteinemia (bassen-kornzweig syndrome). http://www.acponline.org/cgi-bin/medquotes.pl?subject=Abetalipoproteinemia (Bass

22. ACP-ASIM Online - Medicine In Quotations Online Abetalipoproteinemia (bassenkornzweig syndrome) Abortion Abscess Academic healthcenters Academic medicine Acanthocytosis Achondroplasia Acid-base physiology http://www.acponline.org/cgi-bin/medquotes-subjects.pl?subjects=yes&letter=A

23. ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Bassen-Kornzweig Table of content. bassenkornzweig syndrome. Causes and Risks Bassen-Kornzweigsyndrome is an autosomal recessive inherited disorder http://www.enlmedical.com/article/001666.htm

Medical Dictionary Naturapathic Glossary Aphrodisiacs Immune System ... Table of content Bassen-Kornzweig syndrome Causes and Risks: Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein ) including low-density lipoproteins ( LDL ), very-low-density lipoproteins ( VLDL ), and chylomicrons (small molecules of fat in the blood). People with this disease are unable to properly digest fat and have underdeveloped nerves (neuropathy), poor muscle coordination ( ataxia ), and other nerve disorders. Symptoms: failure to thrive (grow) in infancy fatty stools that appear pale in color frothy stools abnormally foul-smelling stools protruding abdomen developmental delay ataxia (poor muscle coordination) that usually develops after age 10 muscle weakness slurred speech curvature of spine Signs and Tests: CBC that shows abnormally shaped red blood cells (thorny appearance) cholesterol studies, including

24. ENLmedical.com: Conditions And Concerns: Medical Encyclopedia Barium enema Barrett's esophagus Bartholin's abscess Bartter's syndrome Basal cellcancer Basal cell nevus syndrome bassenkornzweig syndrome Bathing trunk http://www.enlmedical.com/Encyc/b.html

Medical Dictionary Naturapathic Glossary Aphrodisiacs Immune System ... Links Table of Contents Click Below to find a page B B and T cell screen Babies and diarrhea Babies and heat rashes Babies and shots ... Byssinosis (cotton dust) Expedition's websites are Powered by

25. Bassen-Kornzweig Syndrome bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia;Acanthocytosis; Apolipoprotein B deficiency. Treatment Consult http://www.pennhealth.com/ency/article/001666trt.htm

Disease Injury Nutrition Poison ... Prevention Bassen-Kornzweig syndrome Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Treatment: Consult a nutritionist or other medical professional for dietary teaching. Large doses of vitamin supplements containing the fat-soluble vitamins Vitamin A Vitamin D Vitamin E and Vitamin K ) are given. To avoid intestinal symptoms, avoid eating long-chain triglycerides . The fat in the diet should come from medium-chain triglycerides since they are absorbed from the gut differently than most other fats The diet should contain no more than 5 ounces of lean meat, fish, or poultry per day. Use skim milk instead of whole milk. Expectations (prognosis): The outcome is related to the degree and progression of neurological and visual problems . Severe forms of the disease lead to irreversible neurologic disease before age 30. Complications: Blindness Mental deterioration Loss of function of peripheral nerves, ataxia Calling your health care provider: Call if your infant or child exhibits symptoms of this disease.

26. Bassen-Kornzweig Syndrome bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia;Acanthocytosis; Apolipoprotein B deficiency. Symptoms Failure http://www.pennhealth.com/ency/article/001666sym.htm

Disease Injury Nutrition Poison ... Prevention Bassen-Kornzweig syndrome Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Symptoms: Failure to thrive (grow) in infancy Fatty stools that appear pale in color Frothy stools Abnormally foul-smelling stools Protruding abdomen Developmental delay Ataxia (poor muscle coordination) that usually develops after age 10 Muscle weakness Slurred speech Curvature of spine Progressive decreased vision Balance and coordination difficulties (ataxia) Signs and tests: CBC that shows abnormally shaped red blood cells (thorny appearance) Cholesterol studies, including total cholesterol that shows low levels VLDL and LDL Stool collection that shows elevated fat levels Low levels of fat-soluble vitamins such as Vitamins A,D,E or K Ophthalmology exam shows retinal degeneration Absent or low apolipoprotein B levels in blood Genetic testing may be available for mutations in the APOB or MTP genes EMG or nerve conduction velocity testing may show demyelination of peripheral nerves Review Date: 10/30/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

27. Bassen-Kornzweig Syndrome Encyclopedia Disease - B - bassen-kornzweig syndrome. Bassen-Kornzweigsyndrome. Alternate Names Abetalipoproteinemia. Causes http://www.rwjuhh.net/Atoz/encyclopedia/article/001666.asp

For a complete list of hospital classes and events, click here to connect to HealthConnection Online Medical Encyclopedia Encyclopedia Disease B -> Bassen-Kornzweig syndrome Bassen-Kornzweig syndrome Alternate Names: Abetalipoproteinemia Causes and Risks: Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein ) including low-density lipoproteins ( LDL ), very-low-density lipoproteins ( VLDL ), and chylomicrons (small molecules of fat in the blood). People with this disease are unable to properly digest fat and have underdeveloped nerves (neuropathy), poor muscle coordination ( ataxia ), and other nerve disorders. Symptoms: failure to thrive (grow) in infancy fatty stools that appear pale in color frothy stools abnormally foul-smelling stools protruding abdomen developmental delay ataxia (poor muscle coordination) that usually develops after age 10 muscle weakness slurred speech curvature of spine Signs and Tests: CBC that shows abnormally shaped red blood cells (thorny appearance) cholesterol studies, including

28. Roche Lexikon Medizin (4. Aufl.) - Bassen*-Kornzweig* Syndrom Translate this page Bassen*-Kornzweig* Syndrom. engl. bassen-kornzweig syndrome. Abetalipoproteinämie.Verwandte Themen. Abetalipoproteinämie. Roche http://www.gesundheit.de/roche/ro02500/r3244.html

Bassen*-Kornzweig* Syndrom engl.: Bassen-Kornzweig syndrome Verwandte Themen

29. EMedicine - Neuroacanthocytosis Syndromes : Article Excerpt By: Kenneth B Gross, This typical syndrome is distinguished from the bassenkornzweig syndrome, anautosomal recessive disorder of childhood in which abetalipoproteinemia and http://www.emedicine.com/neuro/byname/neuroacanthocytosis-syndromes.htm

(advertisement) Excerpt from Neuroacanthocytosis Syndromes Synonyms, Key Words, and Related Terms: classic adult neuroacanthocytosis disorder, neuroacanthocytosis variant, NA, Bassen-Kornzweig syndrome Please click here to view the full topic text: Neuroacanthocytosis Syndromes Background: The classic neuroacanthocytosis (NA) syndrome includes combined features of acanthocytosis (ie, spiked red blood cells), chorea, orofacial tics, amyotrophy, and normobetalipoproteinemia. It begins in adult life and typically is inherited as an autosomal recessive disorder. This was recently noted to be due to a single gene locus defect on chromosome 9. The neurological course is progressive. Degeneration of the basal ganglia is a feature of this disorder. This typical syndrome is distinguished from the Bassen-Kornzweig syndrome, an autosomal recessive disorder of childhood in which abetalipoproteinemia and acanthocytosis occur along with steatorrhea, retinitis pigmentosa, and cerebellar ataxia. The array of NA syndromes is extremely complex. Not only are cases known in which neurological features of classic adult and childhood acanthocytosis syndromes overlap, but adult forms have been well described in which lipid profiles more closely resemble those of Bassen-Kornzweig syndrome, as have adult forms that begin in childhood. An adult NA syndrome due to an X-linked gene defect is known that largely excludes females.

30. EMedicine - Acanthocytosis : Article Excerpt By: Frank E Shafer, MD disease (which was later attributed to fat malabsorption). This disorderis sometimes referred to as bassenkornzweig syndrome. http://www.emedicine.com/ped/byname/acanthocytosis.htm

(advertisement) Excerpt from Acanthocytosis Synonyms, Key Words, and Related Terms: abetalipoproteinemia, Bassen-Kornzweig syndrome, spur cell hemolytic anemia Please click here to view the full topic text: Acanthocytosis Background: The term acanthocyte is derived from the Greek word acantha, meaning thorn. Acanthocytes are dense contracted red blood cells with multiple thorny projections or spicules. The thornlike surface protrusions vary in width, length, and surface distribution. Acanthocytic morphology is attributed to changes in the composition of the red blood cell membrane lipids and their altered distribution between the 2 hemi leaflets of the lipid bilayer. Acanthocytes must be distinguished from echinocytes (from the Greek word echinos, meaning urchin). Echinocytes, also known as burr cells, have multiple small projections that are distributed uniformly on the red cell surface. Acanthocytes, or spur cells, are prevalent in 2 very different constitutional disorders affecting lipid metabolism. The 2 disorders are abetalipoproteinemia and spur cell anemia of severe liver disease. Spur cell anemia is most often described in patients with alcoholic cirrhosis. In children, acanthocytes can be observed in any disease associated with severe hepatocellular damage. Conditions include severe active hepatitis, cholestasis, neonatal hepatitis, cardiac cirrhosis, metastatic liver disease, hemochromatosis, and Wilson disease. Acanthocytes are also observed in several other conditions, including infantile pyknocytosis and neonatal hepatitis, and they are observed with the McLeod blood group, anorexia nervosa, malnutrition, and myxedema. While the clinical contexts and pathogenesis of these disorders are quite dissimilar, the acanthocytes found in hereditary abetalipoproteinemia are essentially indistinguishable from those observed in patients with spur cell anemia.

31. BASSEN-KORNZWEIG SYNDROME bassenkornzweig syndrome - A rare congenital disorder that causes the body to notproduce chylomicrons, low density lipoprotein (LDL), and very low density http://www.medhelp.org/glossary/new/GLS_0618.HTM

Welcome to .... Advertisement BASSEN-KORNZWEIG SYNDROME - A rare congenital disorder that causes the body to not produce chylomicrons, low density lipoprotein LDL ), and very low density lipoprotein VLDL ). Individuals with this condition are unable to properly digest fats. Other findings include ataxia peripheral neuropathy , and other forms of nerve dysfunction. Treatment includes vitamin E Med Help International Search Ask the Doctor Forums ... Patient Network The medical glossary has been made possible by a generous donation from: (revised: 1996) Advertisement

32. Bassen-Kornzweig Syndrome bassenkornzweig syndrome. A System. A resource with information onover 4000 medical topics including bassen-kornzweig syndrome. http://www.bloodandmarrowtransplant.com/medical-terms/04185.htm

Bassen-Kornzweig syndrome A Medical Encyclopedia Article provided by Maryland General Hospital A resource with information on over 4000 medical topics including: Bassen-Kornzweig syndrome Previous Next

33. Inheritance Of Retinal Degeneration - Page 7 disease. bassenkornzweig syndrome (Abetalipoproteinemia) RP and progressiveneurologic problems are symptoms of this disease. Patients http://www.jwen.com/rp/ffb/ffb7.html

The Inheritance of Retinal Degenerations Page 7 Click for Table of Contents Isolated Cases When only one member of a family has a retinal degeneration, as we see in about 40 percent of families affected by RP, it is impossible to determine how the disease is inherited in that family. Nevertheless, to assess the risk of retinal degeneration occurring in other family members, it must be assumed that the disease is following one of the known inheritance patterns. Isolated cases of retinal degeneration most often represent autosomal recessive disease. Even though carrier parents have a 25 percent chance of having an affected child, there is still a 75 percent chance of having an unaffected child. So, it is often the case that there is only one child with a retinal degeneraUon in the family. Rarely, isolated cases of retinal degenerations represent new gene mutations. Retinal degenerations are caused by mutated genes that can pass through generations of a family. Occasionally, even when neither parent is affected nor carries an altered gene, one of the genes, usually in the egg or sperm, changes spontaneously from normal and becomes an altered gene, causing the disease in the child. New gene mutations most often represent the start of an autosomal dominant retinal degeneration, or when a ma is affected, either an autosomal dominant or X-linked retinal degeneration. Because a X-linked carrier female often shows mild effects of the altered gene, any mother of a male with an isolated case of retinal degeneration should be examined by an ophthalmologist to determine if she is a carrier.

34. Retina Australia Choroideremia. BardetBiedel Syndrome. Laurence Moon. bassen-kornzweig syndrome.Macular Degeneration. Macular Degeneration. Stargardt Disease. Fundus Flavimaculatus. http://www.retinaaustralia.com.au/SiteMap.htm

Site Map Home Retina Australia About Us Branches What's On ACT ... Become a Member Retinitis Pigmentosa Symptoms Treatment Cataracts And RP Genetic Inheritance Associated Conditions Usher Syndrome Ear Anatomy and Physiology Choroideremia Bardet-Biedel Syndrome ... Bassen-Kornzweig Syndrome Macular Degeneration Macular Degeneration Stargardt Disease Fundus Flavimaculatus Peripapillary (pericentral) Choroidal Dystrophy ... Pigment Pattern Dystrophy Research Grant Application Grant Guidelines Towards Development of Therapies Gene Therapy ... Matching Cause and Therapy Living with Retinal Dystrophies Frequently Asked Questions Legal Blindness Effective Guidance Guide for Parents ... Young People's Issues Support Services Overview ACT NSW QLD ... Links Retina Australia Home Site Map Contact Us Feedback

35. Retina Australia RP with possible physical abnormality, obesity, kidney disease and mental retardation.bassenkornzweig syndrome. - RP with progressive neurological problems. http://www.retinaaustralia.com.au/AssocConditions.htm

USHER SYNDROME Symptoms and Cause This genetic condition causes hearing loss from birth and progressive loss of sight due to retinitis pigmentosa (RP), which causes degeneration of the retina. Often the first symptom of RP is night blindness, followed by narrowing side vision leading to what is called "tunnel vision". Two types of Usher syndrome In Usher Syndrome Type 1, there is severe damage to the cochlea from a very early age and therefore the child has severe deafness from birth. The child usually develops problems with night vision and tunnel vision due to RP in the first 10 years of life. People with this condition usually communicate by signing. This clearly can become more difficult as vision deteriorates. In Usher Syndrome Type 2, the hearing loss is more variable, ranging from mild to severe. Symptoms of RP usually develop from late adolescence to late twenties. Communication is enhanced in these people with hearing aids and lip reading. LARA'S STORY Lara has been diagnosed with Usher Syndrome Type 2. She is currently Co-ordinator of the Youth Group for Retina Australia Queensland Lara is currently studying meetings and events management, and is planning a career in media, focusing on motivational speaking.

36. Health Library Abetalipoproteinemia (bassenkornzweig syndrome). AbetalipoproteinemiaDiscussion Board-Abetalipoproteinemia (bassen-kornzweig syndrome). http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/_SearchResults.asp?l

37. Avera Health - Disease Reference s abscess Bartonellosis Bartter’s syndrome Basal cell carcinoma Basal cell nevussyndrome Basal ganglia dysfunction bassenkornzweig syndrome Bathing trunk http://www.avera.org/adam/ency/index/diseidxb.htm

Disease Reference A B C D ... Byssinosis - work-aggravated asthma

38. Bassen-Kornzweig Syndrome bassenkornzweig syndrome. A Hospital. A resource with informationon over 4000 medical topics including bassen-kornzweig syndrome. http://www.kernanhospital.com/medical-terms/04185.htm

Bassen-Kornzweig syndrome A Medical Encyclopedia Article provided by Kernan Hospital A resource with information on over 4000 medical topics including: Bassen-Kornzweig syndrome Previous Next

39. Asia Pacific J Clin Nutr (1992) 1, 249-251 Dische MR, Porro RS. The cardiac lesions in bassenkornzweig syndrome. macularatrophy and acanthocytosis (bassen-kornzweig syndrome). http://www.monash.edu.au/APJCN/Vol1/Num4/14p249.htm

Asia Pacific J Clin Nutr (1992) 1, 249-251 CASE STUDY Localized myopathy in a young man with abetalipoproteinaemia-myocardial infarction? M.R. Levinson* FRACP, M.B. Higginbotham** FRACP and S.H. Quarfordt*** MD Department of Medicine, Duke University Medical Center, and Veterans Administration Medical Center, Durham, North Carolina 27710; USA *Assistant Director, Intensive Care Unit. Royal Melbourne Hospital; Recipient of an American Liver Foundation Postdoctoral Fellowship. **Cardiologist. Department of Medicine. Duke University Medical Center. Durham NC USA 27710. ***Director. Cooperative Lipid Laboratory. Veterans Administrative Medical Centre. Pluton Street. Durham NC USA 27705. Supported in part by the VA Research Service. Myocardial infarction has not previously been reported as a complication of abetalipoproteinaemia (ABL) We describe a case of probable asymptomatic myocardial infarction in a 24-year-old male with ABL and no previous cardiac history . Electrocardiographic and imaging evidence of the injury is presented.

40. õˆømBn ? basilar impression basilar migraine bassenkornzweig syndrome Bassen-Kornzweig? http://www.so-net.ne.jp/medipro/hypref/hyper/index/b.html

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